Linked Data
dbSNP Id:
rs766193205
ExAC:
2:73799652 A / C
gnomAD v2:
2-73799652-A-C
gnomAD v4:
2-73572525-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572525A>C , CM000664.2:g.73572525A>C | GRCh38 |
| NC_000002.11:g.73799652A>C , CM000664.1:g.73799652A>C | GRCh37 |
| NC_000002.10:g.73653160A>C | NCBI36 |
| NG_011690.1:g.191773A>C , LRG_741:g.191773A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10267A>C | ENSP00000507671.1:p.Ile3423Leu | |
| ENST00000682801.1:c.10267A>C | ENSP00000507862.1:p.Ile3423Leu | |
| ENST00000682859.1:c.10267A>C | ENSP00000508222.1:p.Ile3423Leu | |
| ENST00000683791.1:c.3353A>C | ||
| ENST00000684460.1:c.7548A>C | ||
| ENST00000684548.1:c.10267A>C | ENSP00000507421.1:p.Ile3423Leu | |
| ENST00000684590.1:c.4714A>C | ENSP00000507376.1:p.Ile1572Leu | |
| ENST00000684656.1:c.7593A>C | ||
| ENST00000613296.6:c.10648A>C MANE Select | ENSP00000482968.1:p.Ile3550Leu | |
| ENST00000651057.1:c.802A>C | ENSP00000498504.1:p.Ile268Leu | |
| ENST00000651434.1:c.2004A>C | ||
| ENST00000651750.1:c.36A>C | ||
| ENST00000652487.1:c.1745A>C | ||
| ENST00000423048.5:c.4139A>C | ENSP00000399833.1:n.4139A>C | |
| ENST00000484298.5:c.10522A>C | ENSP00000478155.1:p.Ile3508Leu | |
| ENST00000613296.4:c.10648A>C | ENSP00000482968.1:p.Ile3550Leu | |
| ENST00000614410.4:c.10648A>C | ENSP00000479094.1:p.Ile3550Leu | |
| ENST00000620466.4:n.4451A>C | ||
| NM_015120.4:c.10651A>C , LRG_741t1:c.10651A>C | NP_055935.4:p.Ile3551Leu | |
| NM_001378454.1:c.10648A>C MANE Select | NP_001365383.1:p.Ile3550Leu |